Mevalonate kinase deficiency and IBD: shared genetic background (original) (raw)
The phenotype and genotype of mevalonate kinase deficiency: A series of 114 cases from the Eurofever Registry
Esther Hoppenreijs
Arthritis & rheumatology (Hoboken, N.J.), 2016
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Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra
Arunas Liubsys
Pediatric Rheumatology, 2016
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Mevalonate kinase deficiency: Evidence for a phenotypic continuum
Anna Simon
Neurology, 2004
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Hyper-IgD syndrome or mevalonate kinase deficiency
Sergio Crovella
Current Opinion in Rheumatology, 2011
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Diagnostics and Therapeutic Insights in a Severe Case of Mevalonate Kinase Deficiency
Egidio Barbi
PEDIATRICS, 2007
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Genetics on early onset inflammatory bowel disease: An update
Deepti Suri
Genes & Diseases, 2019
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Very-early-onset inflammatory bowel disease with a partial RIPK1/ BPHL deletion in an infant
Tanil Kendirli
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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness
Theresa McDonald
BMC Pediatrics, 2019
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Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature
Pınar Gençpınar
The Turkish journal of pediatrics
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Mevalonate Kinase Deficiency Associated with Recurrent Liver Dysfunction, Macrophage Activation Syndrome and Perforin Gene Polymorphism
Richard McMasters
Arthritis Care and Research, 2015
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Mouse model of mevalonate kinase deficiency: comparison of cytokine and chemokine profile with that of human patients
Sergio Crovella
Pediatric Research, 2013
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MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency
Sergio Crovella
Rheumatology International, 2017
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Association of the MEFV Gene Variations With Inflammatory Bowel Disease in Turkey
Fatih Besisik, Duran Ustek, Filiz Akyüz
Journal of Clinical Gastroenterology, 2013
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Association of interleukin-1 receptor-associated kinase M (IRAK-M) and inflammatory bowel diseases
Jan Kleibeuker
Scandinavian Journal of Gastroenterology, 2007
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Familial Mediterranean fever in Armenian children with inflammatory bowel disease
Gayane Amaryan
Frontiers in pediatrics, 2024
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Monogenic Cases of Infantile IBD with Discrete Pathological Pathways: a Case Series
nida mirza
Central European Journal of Paediatrics
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Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency
Delphine Maucort-boulch
Medicine, 2016
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Very Early-onset Inflammatory Bowel Disease: Gaining Insight Through Focused Discovery
Kathleen Sullivan
Inflammatory bowel diseases, 2015
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Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation
Florian Hoffmann
European Journal of Human Genetics, 2004
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Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease
Hien Huynh
Gastroenterology, 2014
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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene
Joost Frenkel
Journal of inherited metabolic disease, 2000
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Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
H. Waterham
European Journal of Human Genetics, 2001
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Is Early-onset Inflammatory Bowel Disease a Primary Immune Deficiency?
rachna shanbhag
Pediatric Infectious Disease
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Implications of IBD genetics on disease phenotype
Ioannis Koutroubakis
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Mevalonate kinase deficiency and Dutch type periodic fever
Ger Rijkers
Clinical and experimental rheumatology
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Different presentations of mevalonate kinase deficiency: a case series
Egidio Barbi, Carlo Pieri
Clinical and experimental rheumatology, 2015
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Putative modifier genes in mevalonate kinase deficiency
Annalisa Marcuzzi
Molecular Medicine Reports, 2016
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Diagnostic Challenges in the Early Onset of Inflammatory Bowel Disease: A Case Report
Amirhossein Hosseini
2018
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Genetic Risk Factors of Inflammatory Bowel Disease: with special emphasis on CARD15 and the biotransformation enzymes: GSTM1, GSTT1, GSTP1, NAT2 and mEH
Anja Ernst
2011
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Genetic profile of patients with early onset inflammatory bowel disease
Sergio Crovella
Gene, 2018
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Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years
Phil Beales
Journal of Crohn's and Colitis, 2016
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Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease
Ethem Erginöz
Türk Pediatri Arşivi, 2014
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